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Cox Lab: Craniofacial Development & Dysmorphology

Research in the Cox lab is aimed at understanding the genetic and epigenetic contributions that govern normal facial development and determine an individual’s susceptibility to common craniofacial malformations, such as cleft lip/palate and craniofacial microsomia.

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.

Publication: Journal Article

Kantaputra, Piranit Nik, Salita Angkurawaranon, Worrachet Intachai, Chumpol Ngamphiw, Bjorn Olsen, Sissades Tongsima, Timothy C Cox, and James R Ketudat Cairns. 2023. “A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent With Osteogenesis Imperfecta Type VIII.”. Genes 14 (2).

Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.

Publication: Journal Article

Kanai, Stanley M, Caleb Heffner, Timothy C Cox, Michael L Cunningham, Francisco A Perez, Aaron M Bauer, Philip Reigan, Cristan Carter, Stephen A Murray, and David E Clouthier. 2022. “Auriculocondylar Syndrome 2 Results from the Dominant-Negative Action of PLCB4 Variants.”. Disease Models & Mechanisms 15 (4).

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

Publication: Journal Article

Li, Dong, Michael E March, Paola Fortugno, Liza L Cox, Leticia S Matsuoka, Rosanna Monetta, Christoph Seiler, et al. 2021. “Pathogenic Variants in CDH11 Impair Cell Adhesion and Cause Teebi Hypertelorism Syndrome.”. Human Genetics 140 (7): 1061-76.

Microcomputed tomography of craniofacial mineralized tissue: A practical user's guide to study planning and generating quality data.

Publication: Journal Article

Cox, Timothy C. 2020. “Microcomputed Tomography of Craniofacial Mineralized Tissue: A Practical User’s Guide to Study Planning and Generating Quality Data.”. Bone 137: 115408.

Rapamycin rejuvenates oral health in aging mice.

Publication: Journal Article

An, Jonathan Y, Kristopher A Kerns, Andrew Ouellette, Laura Robinson, Douglas Morris, Catherine Kaczorowski, So-Il Park, et al. 2020. “Rapamycin Rejuvenates Oral Health in Aging Mice.”. ELife 9.

CDH1 Mutation Distribution and Type Suggests Genetic Differences between the Etiology of Orofacial Clefting and Gastric Cancer.

Publication: Journal Article

Selvanathan, Arthavan, Cheng Yee Nixon, Ying Zhu, Luigi Scietti, Federico Forneris, Lina M Moreno Uribe, Andrew C Lidral, et al. 2020. “CDH1 Mutation Distribution and Type Suggests Genetic Differences Between the Etiology of Orofacial Clefting and Gastric Cancer.”. Genes 11 (4).

Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.

Publication: Journal Article

Kantaputra, Piranit, Teerada Daroontum, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, et al. 2022. “Loss of Function TGFBR2 Variant As a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency.”. Genes 14 (1).

Survey of spiking in the mouse visual system reveals functional hierarchy.

Publication: Journal Article

Siegle, Joshua H, Xiaoxuan Jia, Séverine Durand, Sam Gale, Corbett Bennett, Nile Graddis, Greggory Heller, et al. 2021. “Survey of Spiking in the Mouse Visual System Reveals Functional Hierarchy.”. Nature 592 (7852): 86-92.

Sonic Hedgehog upregulation does not enhance the survival and engraftment of stem cell-derived cardiomyocytes in infarcted hearts.

Publication: Journal Article

Weyers, Jill J, Jagadambika J Gunaje, Benjamin Van Biber, Amy Martinson, Hans Reinecke, William M Mahoney, Stephen M Schwartz, Timothy C Cox, and Charles E Murry. 2020. “Sonic Hedgehog Upregulation Does Not Enhance the Survival and Engraftment of Stem Cell-Derived Cardiomyocytes in Infarcted Hearts.”. PloS One 15 (1): e0227780.